Ochronotic Arthropathy: Diagnosis and Management—A Critical Review

Alkaptonuria, a rare hereditary metabolic disorder, is characterized by accumulation of homogentisic acid in the connective tissues resulting from lack of the enzyme homogentisic acid oxidase. Ochronosis, dark pigmenta­tion of connective tissues, is the musculoskeletal mani­festation of alkaptonuria.

In this article, we report the case of a 53-year-old man who had ochronotic arthropathy and advanced degen­erative changes in the shoulders managed with bilateral total shoulder arthroplasty. Three-year follow-up results were satisfactory: good range of motion, no pain, and no signs of prosthesis loosening. Shoulder function was significantly improved after surgery, as documented by Constant scores.

This case suggests that shoulder prosthesis results are not affected by alkaptonuria.